rs10957875

chr8-77910736-G-Achr8-77910736-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.437 in 151,348 control chromosomes in the GnomAD database, including 14,969 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.44 (14969 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0130

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.497 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.437 AC: 66163 AN: 151230 Hom.: 14955 Cov.: 31

Gnomad AFR AF: 0.343

Gnomad AMI AF: 0.369

Gnomad AMR AF: 0.498

Gnomad ASJ AF: 0.475

Gnomad EAS AF: 0.512

Gnomad SAS AF: 0.456

Gnomad FIN AF: 0.471

Gnomad MID AF: 0.478

Gnomad NFE AF: 0.468

Gnomad OTH AF: 0.458

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.437 AC: 66212 AN: 151348 Hom.: 14969 Cov.: 31 AF XY: 0.441 AC XY: 32585 AN XY: 73940

Gnomad4 AFR AF: 0.342

Gnomad4 AMR AF: 0.498

Gnomad4 ASJ AF: 0.475

Gnomad4 EAS AF: 0.513

Gnomad4 SAS AF: 0.458

Gnomad4 FIN AF: 0.471

Gnomad4 NFE AF: 0.468

Gnomad4 OTH AF: 0.459

Alfa AF: 0.467 Hom.: 19314

Bravo AF: 0.438

Asia WGS AF: 0.453 AC: 1573 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	6.4
Dann	Benign	0.63

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs10957875; hg19: chr8-78822971;